Research — GeneOps

rs78534766 — ADCY7 ADCY7 D439E

Chromosome 16 Risk Allele A Category Hormones & Sleep Thyroid, Hormones & Thyroid, Autoimmune, Inflammation, Immune & Autoimmune, Immune Function

Low-frequency missense variant in adenylyl cyclase 7 that reduces cAMP synthesis by 40%, skews immune cells toward a pro-inflammatory Th2 phenotype, and is the strongest non-HLA coding risk factor for ulcerative colitis and autoimmune thyroid disease

rs35699176 — ZNF77 ZNF77 Q100*

Chromosome 19 Risk Allele A Category Allergy & Atopic Disease Lung Health, Asthma, Infection Risk, Immune Defense, Respiratory Infections, Inflammation

Nonsense variant truncating ZNF77 at codon 100, impairing bronchial epithelial barrier integrity and increasing susceptibility to Aspergillus fumigatus airway colonization

rs56051278 — GPD2

Chromosome 2 Risk Allele G Category Neurology & Cognition Brain Health, Mitochondria, Energy Metabolism, Digestive Health, Migraine, Insulin

Intronic variant in GPD2 (mitochondrial glycerol-3-phosphate dehydrogenase), second-strongest signal (P=1.5×10⁻²⁹) from the first-ever motion sickness GWAS; the G allele is in high LD with a missense variant that alters GPD2 enzyme activity and is linked to impaired glucose homeostasis during vestibular stress

rs6814664 — SLC2A9 SLC2A9 Uric Acid Transport Variant

Chromosome 4 Risk Allele C Category Blood Sugar & Diabetes Gout, Uric Acid, Kidney Function, Cardiovascular, Metabolic Syndrome

Intronic SLC2A9 variant tagging a regulatory signal for renal urate reabsorption; the C allele is associated with higher serum uric acid and elevated gout risk, with substantially stronger effects in women; the T allele confers modestly reduced urate and partial gout protection

rs9394502 — BTBD9 BTBD9 insomnia/RLS variant

Chromosome 6 Risk Allele T Category Hormones & Sleep Sleep, Iron, Dopamine, Neurological Risk, Circadian

Intronic variant in the canonical restless legs syndrome gene BTBD9, associated with insomnia and RLS susceptibility via iron-dependent dopaminergic regulation in the brain

rs3771166 — IL1RL1/IL18R1

Chromosome 2 Risk Allele G Category Allergy & Atopic Disease Asthma, Inflammation, Autoimmune, Innate Immunity, Respiratory Infections, Immune System

GABRIEL Consortium lead GWAS SNP at the IL1RL1/IL18R1 locus on chromosome 2q12; G risk allele increases asthma susceptibility (OR 1.15, p=3×10⁻⁹) by tagging regulatory variation affecting IL-18 receptor and ST2 expression in type 2 immune responses

rs55785340 — CYP3A4 *2

Chromosome 7 Risk Allele G Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Statins, Cardiovascular, Immunosuppressants, Ancestry-Specific

Missense variant reducing CYP3A4-mediated nifedipine clearance, causing elevated exposure to statins and other CYP3A4 substrates in heterozygous carriers

rs61734410 — CACNA1H Pro640Leu

Chromosome 16 Risk Allele T Category Neurology & Cognition Cognition, Memory, Neuroplasticity, Migraine, Calcium, Brain Health

Missense variant in CACNA1H encoding the CaV3.2 T-type calcium channel; the Leu640 allele has population-level associations with migraine risk and alters channel pharmacodynamics, set against a backdrop of CaV3.2's established role in hippocampal memory consolidation and synaptic plasticity.

rs7946 — PEMT Val175Met

Chromosome 17 Risk Allele T Category Methylation & Detox Methylation, Folate, B Vitamins, Diet

Phosphatidylcholine production — affects dietary choline requirements

rs9479402 — VIP VIP chronotype variant

Chromosome 6 Risk Allele C Category Hormones & Sleep Circadian, Chronotype, Sleep, Hormones, Brain Health, Neurotransmitters

Intergenic variant ~54 kb downstream of the VIP gene; the C allele reduces VIP signaling capacity in the suprachiasmatic nucleus and is associated with evening preference and delayed sleep timing